- Urofacial syndrome
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Urofacial syndrome Classification and external resources OMIM 236730 DiseasesDB 32631 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression,[1] is an autosomal recessive[2] congenital disorder characterized by inverted facial expressions in association with obstructive disease of the urinary tract.
It may be associated with HPSE2.[3]
Contents
Characteristics
Infants with the disorder exhibit an inverted smile; they appear to be crying when they are actually smiling, in conjunction with uropathy. They also may be affected by hydronephrosis.
See also
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 236730
- ^ Chauve, X.; Missirian, C.; Malzac, P.; Girardot, L.; Guys, J. M.; Louis, C.; Philip, N.; Voelckel, M. A. (Nov 2000). "Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family". American Journal of Medical Genetics 95 (1): 10–12. doi:10.1002/1096-8628(20001106)95:1<10::AID-AJMG3>3.0.CO;2-Z. PMID 11074487.
- ^ Daly SB, Urquhart JE, Hilton E, et al. (June 2010). "Mutations in HPSE2 Cause Urofacial Syndrome". Am J Hum Genet 86 (6): 963–969. doi:10.1016/j.ajhg.2010.05.006. PMC 3032078. PMID 20605127. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(10)00253-3.
External links
Categories:- Genetic disorder stubs
- Rare diseases
- Autosomal recessive disorders
- Congenital disorders
- Syndromes
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